Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNALys gene

Biochemical Journal

Volumn 387, Issue 3, 2005, Pages 773-778

  Bornstein, Belén ^a,b   Mas, José Antonio ^a   Patrono, Clarice ^a,c   Fernández Moreno, Miguel Angel ^a   González Vioque, Emiliano ^a   Campos, Yolanda ^d   Carrozzo, Rosalba ^c   Martín, Miguel Angel ^d   Del Hoyo, Pilar ^d   Santorelli, Filippo M ^c   Arenas, Joaquín ^d   Garesse, Rafael ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b HOSPITAL SEVERO OCHOA   (Spain)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

Aminoacylation; Mitochondrial DNA (mtDNA) mutation; Mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS); Mitochondrial tRNALys gene; Myoclonic epilepsy with ragged red fibres (MERRF)

Indexed keywords

DISEASES; DNA; GENES; MUTAGENESIS; OXIDATION; PATHOLOGY;

AMINOACYLATION; HOMOPLASMIC CYBRIDS; MITOCHONDRIA; PHOSPHORYLATION;

CELLS;

MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; TRANSFER RNA;

AMINOACYLATION; ARTICLE; CYBRID; ENZYME ACTIVITY; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MELAS SYNDROME; MERRF SYNDROME; MITOCHONDRIAL DNA DISORDER; MITOCHONDRIAL RESPIRATION; OSTEOSARCOMA CELL; OXIDATIVE PHOSPHORYLATION; OXYGEN CONSUMPTION; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN SYNTHESIS; RESPIRATORY CHAIN; RNA CONFORMATION; STEADY STATE;

AMINOACYLATION; CELL LINE, TUMOR; DNA, MITOCHONDRIAL; GENE EXPRESSION REGULATION; HUMANS; MERRF SYNDROME; MITOCHONDRIA; MUTATION; PHENOTYPE; PROTEIN CONFORMATION; RNA, TRANSFER, LYS;

EID: 21044447361     PISSN: 02646021     EISSN: None     Source Type: Journal    
DOI: 10.1042/BJ20040949     Document Type: Article

References (34)

1. Scheffler, I. E. (1999) Mitochondria, Wiley-Liss, New York
2. Garesse, R. and Vallejo, C. G. (2001) Animal mitochondrial biogenesis and function: a regulatory cross-talk between two genomes. Gene 263, 1-16
3. Attardi, G. and Schatz, G. (1988) Biogenesis of mitochondria. Annu. Rev. Cell Biol. 4, 289-333
4. Fernandez-Moreno, M. A., Bornstein, B., Campos, Y., Arenas, J. and Garesse, R. (2000) The pathogenic role of point mutations affecting the translational initiation codon of mitochondrial genes. Mol. Genet. Metab. 70, 238-240
5. Smeitink, J. A. (2003) Mitochondrial disorders: clinical presentation and diagnostic dilemmas. J. Inherit. Metab. Dis. 26, 199-207
6. Zeviani, M. and Spinazzola, A. (2003) Mitochondrial disorders. Curr. Neurol. Neurosci. Rep. 3, 423-432
7. Servidei, S. (2003) Mitochondrial encephalomyopathies:gene mutation. Neuromuscul. Disord. 13, 848-853
8. DiMauro, S. and Schon, E. A. (2003) Mitochondrial respiratory-chain diseases. N. Engl. J. Med. 348, 2656-2668
9. Leonard, J. V. and Schapira, A. H. (2000) Mitochondrial respiratory chain disorders I: mitochondriai DNA defects. Lancet 355, 299-304
10. Enriquez, J. A., Chomyn, A. and Attardi, G. (1995) MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination. Nat. Genet. 10, 47-55
11. El Meziane, A., Lehtinen, S. K., Holt, I. J. and Jacobs, H. T. (1998) Mitochondrial tRNALeu isotorms in lung carcinoma cybrid cells containing the np 3243 mtDNA mutation. Hum. Mol. Genet. 7, 2141-2147
12. Helm, M., Florentz, C., Chomyn, A. and Attardi, G. (1999) Search for differences in post-transcriptional modification patterns of mitochondriai DNA-encoded wild-type and mutant human tRNALys and tRNALeu(UUR), Nucleic Acids Res. 27, 756-763
13. Kaufmann, P., Koga, Y., Shanske, S., Hirano, M., DiMauro, S., King, M. P. and Schon, E. A. (1996) Mitochondrial DNA and RNA processing in MELAS. Ann. Neurol. 40, 172-180
14. Arenas, J., Campos, Y., Bornstein, B., Ribacoba, R., Martin, M. A., Rubio, J. C., Santorelli, F. M., Zeviani, M., DiMauro, S. and Garesse, R. (1999) A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers. Neurology 52, 377-382
15. Kameoka, K., Isotani, H., Tanaka, K., Kitaoka, H. and Ohsawa, N. (1998) Impaired insulin secretion in Japanese diabetic subjects with an A-to-G mutation at nucleotide 8296 of the mitochondrial DNA in tRNA(Lys). Diabetes Care 21, 2034-2035
16. Kameoka, K., Isotani, H., Tanaka, K., Azukari, K., Fujimura, Y., Shiota, Y., Sasaki, E., Majima, M., Furukawa, K., Haginomori, S. et al. (1998) Novel mitochondrial DNA mutation in tRNA(Lys) (8296A → G) associated with diabetes. Biochem. Biophys Res. Commun. 245, 523-527
17. Akita, Y., Koga, Y., Iwanaga, R., Wada, N., Tsubone, J., Fukuda, S., Nakamura, Y. and Kato, H. (2000) Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNA(Lys) gene. Hum. Mutat. 15, 382
18. Sakuta, R., Honzawa, S., Murakami, N., Goto, Y. and Nagai, T. (2002) Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation. Pediatr. Neurol. 27, 397-400
19. Ozawa, M., Nishino, I., Horai, S., Nonaka, I. and Goto, Y. I. (1997) Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families. Muscle Nerve 20, 271-278
20. Santorelli, F. M., Mak, S. C., El-Schahawi, M., Casali, C., Shanske, S., Baram, T. Z., Madrid, R. E. and DiMauro, S. (1996) Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A). Am. J. Hum. Genet. 58, 933-939
21. Casali, C., Fabrizi, G. M., Santorelli, F. M., Colazza, G., Villanova, M., Dotti, M. T., Cavallaro, T., Cardaioli, E., Battisti, C., Manneschi, L. et al. (1999) Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family. Neurology 52, 1103-1104
22. Bornstein, B., Mas, J. A., Fernandez-Moreno, M. A., Campos, Y., Martin, M. A., del Hoyo, P., Rubio, J. C., Arenas, J. and Garesse, R. (2002) The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines. Hum. Mutat. 19, 234-239
23. King, M. P. and Attardi, G. (1989) Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 246, 500-503
24. Sambrook, J., Fritsch, E. F. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Laboratory Press, Plainview, NY
25. Hao, H. and Moraes, C. T. (1997) A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNA(Asn). Mol. Cell. Biol. 17, 6831-6837
26. Enriguez, J. A. and Attardi, G. (1996) Analysis of aminoacylation of human mitochondrial tRNAs. Methods Enzymol. 264, 183-196
27. Chomyn, A. (1996) In vivo labeling and analysis of human mitochondrial translation products. Methods Enzymol. 264, 197-211
28. Bacman, S. R., Atencio, D. P. and Moraes, C. T. (2003) Decreased mitochondrial tRNALys steady-state levels and aminoacylation are associated with the pathogenic G8313A mitochondrial DNA mutation. Biochem. J. 374, 131-136
29. Jacobs, H. T. and Holt, I. J. (2000) The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don't. Hum. Mol. Genet. 9, 463-465
30. Janssen, G. M., Maassen, J. A. and van Den Ouweland, J. M. (1999) The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate. J. Biol. Chem. 274, 29744-29748
31. Chomyn, A., Enriguez, J. A., Micol, V., Fernandez-Silva, P. and Attardi, G. (2000) The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes. J. Biol. Chem. 275, 19198-19209
32. Yasukawa, T., Suzuki, T., Ueda, T., Ohta, S. and Watanabe, K. (2000) Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephatopathy, lactic acidosis, and stroke-like episodes. J. Biol. Chem. 275, 4251-4257
33. Schon, E. A., Koga, Y., Davidson, M., Moraes, C. T. and King, M. P. (1992) The mitochondrial tRNA(Leu)(UUR)) mutation in MELAS: a model for pathogenesis. Biochim. Biophys. Acta 1101, 206-209
34. Borner, G. V., Zeviani, M., Tiranti, V., Carrara, F., Hoffmann, S., Gerbitz, K. D., Lochmuller, H., Pongratz, D., Klopstock, T., Melberg, A. et al. (2000) Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. Hum. Mol. Genet. 9, 467-475